A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688724



Internal ID14667123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49877302..49880900hg38UCSC Ensembl
Innerchr12:49878302..49879900hg38UCSC Ensembl
Outerchr12:49876302..49881900hg38UCSC Ensembl
chr12:50271085..50274683hg19UCSC Ensembl
Innerchr12:50272085..50273683hg19UCSC Ensembl
Outerchr12:50270085..50275683hg19UCSC Ensembl
chr12:48557352..48560950hg18UCSC Ensembl
Innerchr12:48558352..48559950hg18UCSC Ensembl
Outerchr12:48556352..48561950hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401982
Supporting Variants
SamplesNA19238
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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